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Case Reports: Rare disease
Type 2 hyper-IgM syndrome with a rare variant of AICDA gene mutation in a young woman
  1. Prithivi Raaj Prakash1,
  2. Gaurav Gupta1,
  3. Mukul Aggarwal2 and
  4. Upendra Baitha1
  1. 1Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India
  2. 2Hematology, All India Institute of Medical Sciences, New Delhi, Delhi, India
  1. Correspondence to Dr Gaurav Gupta; docgaurav996{at}gmail.com

Abstract

We report the case of a woman in her early 20s with a history of recurrent infection, atopic dermatitis, filariasis and bilateral purulent ear discharge since childhood with tonsillar enlargement on examination. She was started on supportive care and evaluated for primary immunodeficiency disease. Blood investigations revealed increased IgM levels with reduced IgG, IgA and IgE levels. Radiological imaging of the chest revealed bilateral bronchiectasis. Otoscopic examination showed features suggestive of chronic suppurative otitis media. Next-generation sequencing identified homozygous single base pair deletion in exon 2 of the activation-induced cytidine deaminase gene. Thus, a diagnosis of hyper-IgM syndrome type 2 was confirmed. The patient was started on monthly intravenous immunoglobulin replacement therapy and is currently symptomatically better, and she remains under regular follow-up.

  • Immunology
  • Genetics
  • Pneumonia (infectious disease)
  • Otitis

https://doi.org/10.1136/bcr-2022-253878

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    Footnotes

    • Contributors The patient was seen primarily by PRP under the supervision of GG. The report was written by PRP and GG with valuable inputs and revisions from MA and UB.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.